Varaico: Literature-Extracted Genetic Variants

Gene:OXCT1

OXCT1

102 papers

RefSeq Summary

This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body cataboli...

Pfam Domains

CoA_transaa 1–86UCSCCoenzyme A transferase
CoA_transaa 116–315UCSCCoenzyme A transferase

Gene Aliases

HGNC Name

3-oxoacid CoA-transferase 1

HGNC Alias Symbol

SCOT

Papers
RefSeq ID
Protein change
DNA change
1–12 of 103 variants
10 papers
NM_000436.4
p.V133E
c.398T>A
10 papers
NM_000436.4
p.T435N
c.1304C>A
10 papers
NM_000436.4
p.C456F
c.1367G>T
8 papers
NM_000436.4
p.G324E
c.971G>A
6 papers
NM_000436.4
p.R468C
c.1402C>T
5 papers
NM_000436.4
p.T58M
c.173C>T
5 papers
NM_000436.4
p.R217*
c.649C>T
5 papers
NM_000436.4
p.G219E
c.656G>A
5 papers
NM_000436.4
p.V221M
c.661G>A
5 papers
NM_000436.4
p.R224K
c.671G>A
5 papers
NM_000436.4
p.R268H
c.803G>A
5 papers
NM_000436.4
p.S283*
c.848C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."